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PubMed2026

Genetically predicted childhood traits and parental health and risk of pediatric psychiatric disorders: A 2-sample Mendelian randomization study.

The etiology of pediatric psychiatric disorders is complex, involving intergenerational influences and a child's own developmental health. We aimed to investigate the potential effects of genetically predicted childhood traits (childhood obesity, absence epilepsy, intelligence) and parental health traits (longevity, Alzheimer disease, severe depression) on the risk of several childhood and adolescent psychiatric disorders. We employed a 2-sample Mendelian randomization (MR) design using summary statistics from large-scale genome-wide association studies. Data for parental health exposures were primarily from the UK Biobank. Data for childhood trait exposures were from various consortia. Data for outcomes - conduct disorder, mixed conduct and emotional disorders, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and broader behavioral/emotional and social disorders - were sourced from FinnGen and the Psychiatric Genomics Consortium, among others. We used the inverse-variance weighted method for the primary analysis, with MR-Egger, weighted median, and weighted mode as additional analyses. To test the robustness of the results, we conducted sensitivity analyses using MR-Egger regression, Cochran Q test for heterogeneity, the MR-pleiotropy residual sum and outlier test, and a leave-one-out analysis. Genetic liability for childhood obesity was associated with an increased risk of ASD (odds ratio = 1.06, P = .016) and ADHD (odds ratio = 1.09, P = .026), even though these associations did not withstand multiple testing correction. No other robust, statistically significant causal associations were identified. Sensitivity analyses showed limited evidence of bias from horizontal pleiotropy for the main findings. Our findings provide MR evidence supporting potential links from genetic liability for childhood obesity to increased risks of ASD and ADHD. These results highlight the importance of considering a child's early-life health trajectory in the etiology of pediatric psychiatric disorders.

Humans↗
PubMed2003

Disentangling weak coherence and executive dysfunction: planning drawing in autism and attention-deficit/hyperactivity disorder.

A tendency to focus on details at the expense of configural information, 'weak coherence', has been proposed as a cognitive style in autism. In the present study we tested whether weak coherence might be the result of executive dysfunction, by testing clinical groups known to show deficits on tests of executive control. Boys with autism spectrum disorders (ASD) were compared with age- and intelligence quotient (IQ)-matched boys with attention-deficit/hyperactivity disorder (ADHD), and typically developing (TD) boys, on a drawing task requiring planning for the inclusion of a new element. Weak coherence was measured through analysis of drawing style. In line with the predictions made, the ASD group was more detail-focused in their drawings than were either ADHD or TD boys. The ASD and ADHD groups both showed planning impairments, which were more severe in the former group. Poor planning did not, however, predict detail-focus, and scores on the two aspects of the task were unrelated in the clinical groups. These findings indicate that weak coherence may indeed be a cognitive style specific to autism and unrelated to cognitive deficits in frontal functions.

Attention↗
PubMed1986

Mutations affecting gluconate catabolism in Escherichia coli. Genetic mapping of the locus for the thermosensitive gluconokinase.

An Escherichia coli strain unable to use gluconate was isolated by spontaneous curing of lambda cI857 s7 xis6 b515 b519, lambda cI857 s7 delta(A-att) dargI valS lysogens. Two lesions, linked to asd and pyrB markers, respectively, were necessary to produce this phenotype. The asd-linked mutation gnt-17, of regulatory type, seems to affect the expression of the major system of gluconate utilization (min 75) as well as that of 6-phosphogluconate dehydratase (gene edd, min 41), the first enzyme of the Entner-Doudoroff pathway. A closely linked suppressor of gnt-17 causes constitutivity of these activities; this suppressor resembles gntR, which is also in the asd region. Hence, it is possible that gnt-17 is a super-repressing allele of gntR, rather than a positive controlling element. Lesion gnt-17 alone does not prevent the utilization of gluconate; for this, the mutation gnt-18 at 96.9 min is also necessary. This mutation abolishes the thermosensitive gluconokinase activity and thus eliminates the subsidiary ability to catabolize gluconate. Accordingly, gnt-18 seems to be allelic with gntV, the locus postulated as being in the pyrB region specifying the thermosensitive gluconokinase.

Chromosome Mapping↗
PubMed2025

Distinct patterns of de novo coding variants contribute to Tourette Syndrome etiology.

Tourette syndrome (TS) is a highly heritable childhood-onset neuropsychiatric disorder characterized by persistent motor and vocal tics. While both common and rare variants contribute to TS susceptibility, the role of rare de novo mutations (DNMs) remains incompletely characterized. Here, we report findings from the largest TS whole-exome sequencing study to date, analyzing 1,466 TS trios alongside 6,714 autism spectrum disorder (ASD) trios and 5,880 unaffected sibling controls from the Simons Simplex Collection (SSC) and SPARK cohorts. Leveraging a trio-based design across these cohorts enabled calibrated assessment of DNM burden while controlling for background mutation rates. We observed a significant exome-wide enrichment of protein-truncating DNMs in TS probands, particularly within genes intolerant to loss-of-function variation (pLI ≥ 0.9), with little contribution from damaging missense variants. Notably, TS probands did not exhibit enrichment in previously implicated ASD or developmental delay (DD) genes, but elsewhere in the genome, suggesting a distinct rare variant architecture. Using a Bayesian statistical framework that integrates both de novo and rare inherited coding variants, we identified three candidate TS risk genes with FDR ≤ 0.05: PPP5C , EXOC1 , and GXYLT1 . Literature shows that they have prior links to neurodevelopmental and psychiatric disorders. These findings reveal a rare variant burden in TS that is genetically distinguishable from ASD, underscore the importance of loss-of-function mutations in TS risk, and nominate novel candidate genes for future functional investigation.

Journal Article↗
PubMedDate not supplied

Neurocognitive function and joint attention ability in young children with autism spectrum disorder versus developmental delay.

Studies have shown that young children with autism are not impaired on prefrontal tasks relative to what would be expected for their mental age, raising questions about the executive dysfunction hypothesis of autism. These studies did not include ventromedial prefrontal tasks, however. The present study examined whether young children with autism spectrum disorder (ASD) are impaired on ventromedial prefrontal tasks, and whether performance on such tasks is correlated with a core autism symptom, joint attention ability. Seventy-two 3- to 4-year-old children with ASD, 34 3- to 4-year-old developmentally delayed children, and 39 12- to 46-month-old typically developing children, matched on mental age, were administered ventromedial and dorsolateral prefrontal tasks and joint attention tasks. Children with ASD performed similarly to comparison groups on all executive function tasks, indicating that at this early age, there is no autism-specific pattern of executive dysfunction. Ventromedial, but not dorsolateral, prefrontal task performance was strongly correlated with joint attention ability, however. The ventromedial prefrontal cortex is hypothesized to play a role in the development of joint attention and possibly some aspects of the autistic syndrome.

Attention↗
PubMedDate not supplied

Neural correlates of face and object recognition in young children with autism spectrum disorder, developmental delay, and typical development.

This study utilized electroencephalographic recordings to examine whether young children with autism spectrum disorder (ASD) have impaired face recognition ability. High-density brain event-related potentials (ERPs) were recorded to photos of the child's mother's face versus an unfamiliar female face and photos of a favorite versus an unfamiliar toy from children with ASD, children with typical development, and children with developmental delay, all 3 to 4 years of age (N = 118). Typically developing children showed ERP amplitude differences in two components, P400 and Nc, to a familiar versus an unfamiliar face, and to a familiar versus an unfamiliar object. In contrast, children with ASD failed to show differences in ERPs to a familiar versus an unfamiliar face, but they did show P400 and Nc amplitude differences to a familiar versus an unfamiliar object. Developmentally delayed children showed significant ERP amplitude differences for the positive slow wave for both faces and objects. These data suggest that autism is associated with face recognition impairment that is manifest early in life.

Autistic Disorder↗
PubMed2002

Cognitive profiles and social-communicative functioning in children with autism spectrum disorder.

BACKGROUND: Whether there is an unusual degree of unevenness in the cognitive abilities of children with autism spectrum disorder (ASD) and whether different cognitive profiles among children with ASD might index etiologically significant subgroups are questions of continued debate in autism research. METHOD: The Differential Ability Scales (DAS) and the Autism Diagnostic Observation Schedule (ADOS) were used to examine profiles of verbal and nonverbal abilities and their relationship to autistic symptomatology in 120 relatively high-functioning children with ADI-confirmed diagnoses of autism. RESULTS: Discrepancies between verbal and nonverbal ability scores occurred at a significantly higher rate than in the DAS normative sample (30%) in both a younger group of 73 children (56%) with a mean age of 5;5 and an older group of 47 children (62%) with a mean age of 8;11. Discrepancies were mainly in favor of nonverbal ability in the younger group, but occurred equally in favor of verbal and nonverbal abilities in the older group. Comparison of the two age groups suggested a growing dissociation between verbal and nonverbal (and particularly visual processing) skills with age. In the older group, children with discrepantly higher nonverbal abilities demonstrated significantly greater impairment in social functioning, as measured on the ADOS, independent of absolute level of verbal and overall ability. CONCLUSIONS: These findings demonstrate a high rate of uneven cognitive development in children with ASD. Indications of a dissociation between verbal and visual-perceptual skills among the older children, and the specific association of discrepantly high nonverbal skills with increased social symptoms suggest that the nonverbal > verbal profile may index an etiologically significant subtype of autism.

Adolescent↗
PubMed2006

Satisfaction with formal support and education for children with autism spectrum disorder: the voices of the parents.

INTRODUCTION: The aim of the present study was to identify and describe factors associated with variations in the level of parental satisfaction with formal support and education for children with autism spectrum disorder (ASD) in Flanders. METHODS: Participants were recruited by a mailing from a diagnostic centre for pre-schoolers and by advertisements dispersed in the Flemish parent organization for ASD and in services and special schools. The sample consisted of 244 parents of children with ASD (age range: 2.69-17.81 years, male/female sex ratio 4:1). The data were collected using a questionnaire on experiences with education and support, which was compiled for the purpose of this study. The data resulting from the questionnaire were supplemented with information obtained from semi-structured in-depth interviews with a stratified sample of 15 parents. RESULTS AND CONCLUSIONS: The study revealed that parents experienced difficulties with the diagnostic process, with support and education provided by mainstream settings and with the accessibility of autism-specific service provisions. Conversely, parents reported to be satisfied with the quality of autism-specific support and education. Predictors of overall satisfaction were parental involvement in formal support, knowledge of available service provisions and time between first consultation and final diagnosis. Practical implications of the results are discussed.

Adolescent↗
PubMed2005

Abnormal activation of face processing systems at early and intermediate latency in individuals with autism spectrum disorder: a magnetoencephalographic study.

The neurological basis of developmental psychopathology in autism is a matter of intense debate. Magnetoencephalography (MEG) was used to study the neuronal responses associated with the processing of faces in 12 able adults with autism spectrum disorders (ASD), performing image categorization and image identification tasks. The neuromagnetic data were analysed using nonparametric time-series analysis and equivalent current dipole estimation. Comparison data were obtained from 22 normally developing adults. In individuals with ASD, the neural responses to images of faces, observed in right extrastriate cortices at approximately 145 ms after stimulus onset, were significantly weaker, less lateralized and less affected by stimulus repetition than in control subjects. Early latency (30-60 ms) responses to face images, over right anterior temporal regions, differed significantly between the two subject groups in the image identification task. No such difference was observed for images of mugs or meaningless geometrical patterns. These findings suggest that, during the course of development in individuals with ASD, the cortical activity associated with the processing of human faces assumes a different-from-normal localization in extrastriate brain regions. This abnormal localization may be associated with unusual, but nevertheless face-specific, fast processing pathways.

Adult↗
PubMed2004

Resistance profiles and adherence at primary virological failure in three different highly active antiretroviral therapy regimens: analysis of failure rates in a randomized study.

OBJECTIVES: To investigate the interplay between resistance and adherence in the virological failure of three fundamentally different highly active antiretroviral therapy (HAART) regimens. METHODS: We retrospectively identified 56 verified primary virological failures (viral load >400 HIV-1 RNA copies/mL) among 293 patients randomized to two nucleoside reverse transcriptase inhibitors (NRTIs)+ritonavir+saquinavir (RS-arm) (n=115), two NRTIs+nevirapine+nelfinavir (NN-arm) (n=118), or abacavir+stavudine+didanosine (ASD-arm) (n=60) followed up for a median of 90 weeks. Data on adherence were collected from patient files, and genotyping was performed on plasma samples collected at time of failure. RESULTS: Treatment interruption or poor adherence was mainly caused by side effects and accounted for 74% of failures, and was associated with absence of resistance mutations. In the 30 failing patients not switched from randomized treatment, we found resistance in two of 12 patients in the RS-arm (M184 V only), four of six patients in the NN-arm [all four had non-nucleoside reverse transcriptase inhibitor (NNRTI) mutations], and seven of 12 patients in the ASD-arm (NRTI mutations only). Two adherent patients on randomized treatment failed in the RS-arm, none in the NN-arm, and six in the ASD-arm. CONCLUSIONS: Primary virological failure was caused mainly by treatment interruption. No primary protease inhibitor (PI) mutations were found in patients failing on boosted saquinavir, whereas resistance to NNRTIs and NRTIs was prevalent in several patients failing on regimens based on these medications.

Adult↗
PubMed2006

The broader cognitive phenotype of autism in parents: how specific is the tendency for local processing and executive dysfunction?

BACKGROUND: The objective of this study was to investigate the tendency for local processing style ('weak central coherence') and executive dysfunction in parents of subjects with an autism spectrum disorder (ASD) compared with parents of individuals with early onset schizophrenia (EOS) and mental retardation (MR). METHOD: Sixty-two parents of subjects with ASD, 36 parents of subjects with EOS and 30 parents of subjects with MR were examined. Data on two scales indicative of local visual processing (Embedded Figures Test, Block Design) and on three executive function tests (Wisconsin Card Sorting Test, Tower of Hanoi, Trailmaking Test) were collected for all participants. RESULTS: Parents of subjects with ASD performed significantly faster on the Embedded Figures Test compared with both control samples. No other substantial group differences were observed. CONCLUSIONS: The findings indicate that an increased tendency for local processing in terms of visual disembedding could be a relatively specific core feature of the broader cognitive phenotype of autism in parents.

Adult↗
PubMed1994

Children with autistic spectrum disorder and a family history of affective disorder.

This paper compiles the clinical behavioral phenomenology of individuals with autistic spectrum disorder (ASD) with a family history of bipolar affective disorder (BPAD) or major depression and no identified neurological disorder, based on repeated clinical interviews during extended follow-up (ranging from six months to 21 (mean 3.9) years. Their pattern of affective and cognitive symptoms showed notable similarities across the entire group, despite wide variations in severity; was congruent with standard definitions of ASD; showed many features of childhood BPAD, including affective extremes, cyclicity, obsessive traits, special abilities, and regression after initial normal development; and differed from that of autistic children with neurological etiologies. These observations support the concept that ASD in some cases may be etiologically related to BPAD.

Adolescent↗
PubMed1991

Transesophageal echocardiography with color Doppler during interventional catheterization.

Echocardiography has been used during interventional cardiac catheterization for guidance of the procedure and assessment of results. However, limited echocardiographic windows and logistical difficulties make conventional echocardiography during interventional catheterization impractical and of limited value. Transesophageal echocardiography (TEE) with Doppler color flow mapping is more useful than conventional echocardiography for guidance of interventional catheterizations. Device closure of congenital atrial and ventricular septal defects (ASDs and VSDs) and of postoperative residual interatrial and interventricular communications, balloon valvuloplasty, and Brockenbrough atrial septal puncture with ASD creation have been performed under combined fluoroscopic and TEE guidance. Transesophageal echocardiography can be performed continuously throughout the procedure, allowing simultaneous fluoroscopic and echocardiographic assessment of catheter position. Localization of individual device arms during transcatheter device closure of ASDs and VSDs is easier and more accurate when TEE is used, resulting in a lower incidence of incorrect device positioning. Doppler color flow mapping is used to determine number, location, and size of defects, to detect residual shunts after device closure, and to assess valve insufficiency after balloon valvuloplasty and other procedures. Combined TEE and fluoroscopic guidance of interventional procedures, with echocardiographic assessment of results, reduces the amount of radiation and contrast used during the procedure, allowing performance of additional interventional procedures during the same catheterization. Transesophageal echocardiography is indicated during interventional procedures in which simultaneous Doppler color flow mapping and precise localization of catheter, balloon and/or device position will result in a higher success rate and decreased morbidity.

Adolescent↗
PubMed1998

Visualization of Secundum Atrial Septal Defect Using Transthoracic Three-Dimensional Echocardiography in Children: Implications for Transcatheter Closure.

BACKGROUND: The objective of this study was to evaluate the efficacy of quantitative measurements of secundum atrial septal defect (ASD) with dynamic transthoracic three-dimensional (3-D) echocardiography. METHODS: Twenty-six patients (age, 13 months to 14 years; mean age, 37 months) with secundum ASDs underwent 3-D echocardiographic imaging generated from transthoracic echocardiographic interrogation before surgery. Four specific cut planes were defined: four-chamber view, transverse view, en face view from right and left atrial side. The images obtained from 16 patients clearly demonstrated all four defined cut planes for the quantitative measurement. RESULTS: The defect sizing determined by the 3-D images correlated well with surgical findings. These images may be interactively manipulated to optimize visualization of the defect to allow the cardiologist to perform transcatheter occlusion. A significant correlation was demonstrated to the limbic band tissue assessment by four-chamber and transverse views. Unusual atrial structures such as muscle bands and the fore-shortening of the en face view might induce biased measurements. CONCLUSIONS: The transthoracic approach was successful in capturing sufficient data to create 3-D images, which can provide an accurate assessment of secundum ASD. The possibility of underestimation should always be taken into account with the en face view. Multiple cut planes were essential to ensure correct sizing for adequate selection of the occluder.

Journal Article↗
PubMed2005

Do complaints of amaurosis fugax and blurred vision after transcatheter device closure of atrial septal defect indicate microemboli to retinal vessels?

Atrial septal defect (ASD) is a common diagnosis in young adults with congenital heart disease. The aim of this study was to determine if ocular symptoms following percutaneous treatment are due to microemboli. The study group included 20 adult patients (9 men, 11 women, mean age 57.2 years) with ASD who had undergone successful closure with the Amplatzer occluder. The patients were treated with aspirin or warfarin during 6 months after the procedure. All were evaluated neurologically and an ocular medical history was obtained. Ocular examination included the 120-point Humphrey visual field. Transcranial Doppler (TCD) was performed to monitor the middle cerebral artery. Two patients complained of amaurosis fugax at 1 and 3 months after the procedure, and two patients complained of blurred vision at 3 and 4 months after the procedure. TCD performed for 45 minutes within 24 hours of the visual complaints revealed no abnormalities. In all patients, the neurological and ocular examinations, including the visual field test, were normal. In conclusion, microembolic events could not be demonstrated to be the cause of the ocular complaints in patients with ASD treated with Amplatzer occluder. Further studies in larger samples are needed to confirm these results.

Adult↗
PubMed2006

Dysfunction of an atrial septal defect occluder 8 years after implantation.

Catheter interventional treatment of atrial septal defect (ASD) is widely accepted. The ASD occluder system (ASDOS) is no longer a widely used device nowadays. However, it is implanted in a substantial number of patients. We report a case of severe left-to-right shunt 8 years after catheter interventional closure of an ASD with an ASDOS device. The shunt was due to a membrane perforation, while the arms of the device were not dislocated. Microscopy, microbiology, and histology could not establish a proper explanation for the dysfunction; so long-term follow-up investigation may be required in patients with an implanted ASDOS device.

Aged↗
PubMedDate not supplied

Secundum-type atrial septal defects with failure to thrive in the first year of life.

This article summarizes the case histories of six infants who had isolated secundum-type atrial septal defects (ASDs) and presented with failure to thrive in the first year of life. Patients underwent operative closure of their ASD with the expectation that this would improve their feeding and growth pattern. Five of the six children demonstrated little or no improvement in symptoms following operation. Each of these five patients have subsequently shown signs of developmental delay. Our experience with this group suggests that failure to thrive associated with a secundum ASD will frequently have a noncardiac basis.

Child Development↗
PubMed1998

Right parasternal minithoracotomy for repair of atrial septal defect.

Various surgical approaches for repair of atrial septal defect (ASD) have recently been introduced for superior cosmetic and less invasive results. A technique for repair of isolated ASD through a small right parasternal minithoracotomy is described. In spite of the smaller incision, there is no need to use femoral cannulation or video-assisted endoscopy. This approach is simple, less invasive, and cosmetic. We believe that right parasternal minithoracotomy is a suitable alternative to a median sternotomy for ASD closure, especially in young male patients.

Adolescent↗